Gene Gene information from NCBI Gene database.
Entrez ID 3161
Gene name Hyaluronan mediated motility receptor
Gene symbol HMMR
Synonyms (NCBI Gene)
CD168IHABPRHAMM
Chromosome 5
Chromosome location 5q34
Summary The protein encoded by this gene is involved in cell motility. It is expressed in breast tissue and together with other proteins, it forms a complex with BRCA1 and BRCA2, thus is potentially associated with higher risk of breast cancer. Alternatively spli
miRNA miRNA information provided by mirtarbase database.
93
miRTarBase ID miRNA Experiments Reference
MIRT024628 hsa-miR-215-5p Microarray 19074876
MIRT026177 hsa-miR-192-5p Microarray 19074876
MIRT027466 hsa-miR-98-5p Microarray 19088304
MIRT044370 hsa-miR-106b-5p CLASH 23622248
MIRT038799 hsa-miR-93-3p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
AR Unknown 18174258
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 22110403, 22666460, 22965910, 25416956, 29789297, 31515488, 32296183, 32814053, 33961781, 35156780, 36012204
GO:0005540 Function Hyaluronic acid binding IEA
GO:0005737 Component Cytoplasm IDA 31429579
GO:0005737 Component Cytoplasm IEA
GO:0005813 Component Centrosome IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600936 5012 ENSG00000072571
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75330
Protein name Hyaluronan mediated motility receptor (Intracellular hyaluronic acid-binding protein) (Receptor for hyaluronan-mediated motility) (CD antigen CD168)
Protein function Receptor for hyaluronic acid (HA) (By similarity). Involved in cell motility (By similarity). When hyaluronan binds to HMMR, the phosphorylation of a number of proteins, including PTK2/FAK1 occurs. May also be involved in cellular transformation
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15905 HMMR_N 15 339 Hyaluronan mediated motility receptor N-terminal Coiled-coil
PF15908 HMMR_C 552 708 Hyaluronan mediated motility receptor C-terminal Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Expressed in testis (PubMed:22965910). Expressed in the breast (PubMed:8890751). {ECO:0000269|PubMed:22965910, ECO:0000269|PubMed:8890751}.
Sequence
Sequence length 724
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  ECM-receptor interaction   Hyaluronan uptake and degradation
AURKA Activation by TPX2
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Ovarian cancer Likely pathogenic rs780743612 RCV003154732
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Breast cancer, susceptibility to Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
5q-syndrome 5q-syndrome BEFREE 8595891
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 22371883, 8595891
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 15627212
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 19949890, 28196904, 30727821
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 9816340
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 29661773
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 12222834
★☆☆☆☆
Found in Text Mining only
Atrophy of testis Testicular atrophy BEFREE 30582228
★☆☆☆☆
Found in Text Mining only
Autoimmune Lymphoproliferative Syndrome Autoimmune Lymphoproliferative Disorder BEFREE 25299107
★☆☆☆☆
Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE Lymphocytic Leukemia BEFREE 16773189, 20072155
★☆☆☆☆
Found in Text Mining only